A case of Shwachman syndrome with increased spontaneous chromosome breakage
β Scribed by H. Tada; T. Ri; H. Yoshida; K. Ishimoto; M. Kaneko; Y. Yamashiro; T. Shinohara
- Book ID
- 104704466
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 269 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lymphocytes did not show increased sensitivity to mitomycin C.
π SIMILAR VOLUMES
Lymphocytes from patients with Wiskott-Aldrich syndrome (WAS) were studied 1) with prometaphase G banding to search for minor chromosome anomalies and 2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to hav